A homozygous deleterious c.478G>T (p.G160W) variant in B3GNT4 causes progressive brain atrophy and muscular dystrophy in a human. A knock‑in mouse model replicating the patient’s muscle histology was generated to study the phenotype and underlying biology.
The B3GNT4 variant leads to progressive central nervous system atrophy and muscular dystrophy phenotypes in the Knockin mouse, reflecting key features of the human condition
B3GNT4^p.G160W Knockin mouse (replicating human B3GNT4 variant)
Glycosyltransferase function, brain atrophy, muscular dystrophy model, CNS development, translational disease modeling
Targeted Knockin of the c.478G>T (p.G160W) variant into B3gnt4, analysis of muscle histology, phenotypic comparison to human disease, central nervous system morphology assessment, glycosylation pathway evaluation
From model design to experimental results
Featured in 600+ scientific articles
Collaboration with 17 Top Pharmas,
170+ Biotechs and 380+ Academic Institutions
Generated with biopharma partners and in-house
and guaranteed freedom to operate
Models with certified health status from professional breeders in US and Europe
